Comparison of Informed Consent Preferences for Multiplex Genetic Carrier Screening among a Diverse Population
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Multiplex genetic carrier screening is increasingly being integrated into reproductive care. Obtaining informed consent becomes more challenging as the number of screened conditions increases. Implementing a model of generic informed consent may facilitate informed decision-making. Current Wayne State University students and staff were invited to complete a web-based survey by blast email solicitation. Participants were asked to determine which of two generic informed consent scenarios they preferred: a brief versus a detailed consent. They were asked to rank the importance of different informational components in making an informed decision and to provide demographic information. Comparisons between informational preferences, demographic variables and scenario preferences were made. Six hundred ninety three participants completed the survey. When evaluating these generic consents, the majority preferred the more detailed consent (74.5 %), and agreed that it provided enough information to make an informed decision (89.5 %). Those who thought it would be more important to know the severity of the conditions being screened (p = .002) and range of symptoms (p = .000) were more likely to prefer the more detailed consent. There were no significant associations between scenario preferences and demographic variables. A generic consent was perceived to provide sufficient information for informed decision making regarding multiplex carrier screening with most preferring a more detailed version of the consent. Individual attitudes rather than demographic variables influenced preferences regarding the amount of information that should be included in the generic consent. The findings have implications for how clinicians approach providing tailored informed consent.
KeywordsInformed consent Multiplex carrier screening Genetic screening Decision making Reproductive care Preferences Attitudes
The authors would like to acknowledge Kelly Ormond, MS, CGC from Stanford University and Carin Yates, MS, CGC, from GeneDx in Gaithersburg, MD for providing input on the development of the informed consent scenarios and survey instrument. We would also like to acknowledge Rachel Orlowski formerly from the Center for Urban Studies at Wayne State University for her assistance with statistical analysis, Leah Rush from Wayne State University for her assistance in coding the open-ended survey responses and the National Society of Genetic Counselors Prenatal Special Interest Group for providing the funds to administer the survey.
Conflict of Interest
Authors Ashley Reeves and Angela Trepanier declare that they have no conflict of interest.
Human Subject Protections
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants included in the study.
No animal studies were carried out by the authors for this article.
- Bekker, H., Thornton, J. G., Airey, C. M., Connelly, J. B., Hewison, J., Robinson, M. B., & Pearman, A. D. (1999). Informed decision making: an annotated bibliography and systematic review. Health Technology and Assessments, 3(1), 1–156.Google Scholar
- Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., & Kingsmore, S. F. (2011). Carrier testing for severe childhood recessive diseases by next-generation sequencing. Science Translational Medicine, 3(65), 65ra4. doi: 10.1126/scitranslmed.3001756.PubMedCentralCrossRefPubMedGoogle Scholar
- Dormandy, E., Tsui, E.Y., & Marteau, T. M. (2007). Development of a measure of informed choice suitable for use in low literacy populations. Patient Education and Counseling, 66(3), 278–95. doi: 10.1016/j.pec.2007.01.001.
- Edwards, J. G., Feldman, G., Goldberg, J., Gregg, A. R., Norton, M. E., Rose, N. C., Schneider, A., Stoll, K., Wapner, R., & Watson, M. S. (2015). Expanded carrier screening in reproductive medicine-points to consider. A joint statement of the American college of medical genetics, American college of obstetricians and gynecologists, national society of genetic counselors, perinatal quality foundation, and society for maternal fetal medicine. Obstetrics and Gynecology, 125(3), 653–662. doi: 10.1097/AOG.0000000000000666.CrossRefPubMedGoogle Scholar
- Elias, S., & Annas, G. J. (1994). Generic consent for genetic screening. The New England Journal of Medicine, 330(22), 1611–3. doi: 10.1056/NEJM199406023302213
- Kloza, E. M., Haddow, P. K., Halliday, J. V., O’Brien, B. M., Lambert-Messerlian, G. M., & Palomaki, G. E. (2015). Evaluation of patient education materials: the example of circulating cell free DNA testing for aneuploidy. Journal of Genet Counsel, 24, 259–266. doi: 10.1007/s10897-014-9758-8.CrossRefGoogle Scholar
- National Human Genome Research Institute (2008). Population-based carrier screening for single gene disorders: Lessons learned and new opportunities. Meeting Summary. Rockville, MD. Last accessed on 11/12/14 at http://www.genome.gov/27026048.
- Ormond, K. E., Banuvar, S., Daly, A., Iris, M., Minogue, J., & Elias, S. (2009). Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening. Patient Education and Counseling, 75(2), 244–50. doi: 10.1016//j.pec.2008.09.020.CrossRefPubMedGoogle Scholar
- Tanner, A. K., Valencia, C. A., Rhodenizer, D., Espirages, M., DaSilva, C., Borsuk, L., & Hegde, M. (2014). Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status. Journal of Molecular Diagnostics, 16(3), 350–360. doi: 10.1016/j.jmoldx.2013.12.003.CrossRefPubMedGoogle Scholar
- Wayne State University Fact Book. (2012). Who Are WSU’s students? Retrieved August 2012. http://wayne.edu/facts/2012/students/who-are.php.